| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare anaemia v1.29 | HSCB | Arina Puzriakova Tag watchlist tag was added to gene: HSCB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.29 | HSCB | Arina Puzriakova Classified gene: HSCB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.29 | HSCB | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Rating Amber, awaiting further cases - single individual reported to date (PMID:32634119) but with strong functional support, including in vitro and animal studies (zebrafish and mouse) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.29 | HSCB | Arina Puzriakova Gene: hscb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.28 | HSCB | Arina Puzriakova Phenotypes for gene: HSCB were changed from Anaemia, sideroblastic, 5 619523 to ?Anemia, sideroblastic, 5, OMIM:619523 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.27 | HSCB |
Zornitza Stark gene: HSCB was added gene: HSCB was added to Rare anaemia. Sources: Literature Mode of inheritance for gene: HSCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSCB were set to 32634119 Phenotypes for gene: HSCB were set to Anaemia, sideroblastic, 5 619523 Review for gene: HSCB was set to AMBER Added comment: Single individual reported with compound heterozygous variants in this gene. Good functional data including animal model. Sources: Literature |
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